Variant report

Variant	rs3002262
Chromosome Location	chr13:62239134-62239135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17200703	0.84[EUR][1000 genomes]
rs2329312	0.81[EUR][1000 genomes]
rs2487339	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2487340	0.89[EUR][1000 genomes]
rs2487342	0.89[EUR][1000 genomes]
rs2497625	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2876806	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4433704	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4884383	0.84[EUR][1000 genomes]
rs4886345	0.84[EUR][1000 genomes]
rs7994446	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9539235	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761266	chr13:61928642-62690828	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv948810	chr13:62003256-62968196	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1053698	chr13:62108064-62271909	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv900250	chr13:62147535-62321073	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62237600-62240800	Enhancers	Fetal Intestine Large	intestine
2	chr13:62237800-62240200	Enhancers	Fetal Intestine Small	intestine
3	chr13:62238400-62239600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:62238400-62239600	Flanking Active TSS	HepG2	liver
5	chr13:62238400-62239800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:62238800-62239600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:62239000-62239400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr13:62239000-62239600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:62239000-62239600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:62239000-62239600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:62239000-62240000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:62239000-62240000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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